Linked Data
dbSNP Id:
rs1352109382
gnomAD v2:
2-16085665-ACTGTGGAGAAGC-A
gnomAD v4:
2-15945543-ACTGTGGAGAAGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15945544_15945555del , CM000664.2:g.15945544_15945555del | GRCh38 |
| NC_000002.11:g.16085666_16085677del , CM000664.1:g.16085666_16085677del | GRCh37 |
| NC_000002.10:g.16003117_16003128del | NCBI36 |
| NG_007457.1:g.9984_9995del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703162.1:n.191_202del | ||
| ENST00000281043.4:c.842_853del MANE Select | ENSP00000281043.3:p.Thr281_Lys284del | |
| ENST00000638417.1:c.209_220del | ENSP00000491476.1:p.Thr70_Lys73del | |
| ENST00000281043.3:c.842_853del | ENSP00000281043.3:p.Thr281_Lys284del | |
| NM_001293228.1:c.842_853del | NP_001280157.1:p.Thr281_Lys284del | |
| NM_001293231.1:c.209_220del | NP_001280160.1:p.Thr70_Lys73del | |
| NM_001293233.1:c.*777_*788del | NP_001280162.1:n.*777_*788del | |
| NM_005378.5:c.842_853del | NP_005369.2:p.Thr281_Lys284del | |
| NM_005378.6:c.842_853del MANE Select | NP_005369.2:p.Thr281_Lys284del | |
| NM_001293228.2:c.842_853del | NP_001280157.1:p.Thr281_Lys284del | |
| NM_001293231.2:c.209_220del | NP_001280160.1:p.Thr70_Lys73del | |
| NM_001293233.2:c.*777_*788del | NP_001280162.1:n.*777_*788del |